Analysis of mutations causing biotinidase deficiencya
نویسندگان
چکیده
منابع مشابه
A biotinidase Km variant causing late onset bilateral optic neuropathy.
A patient with a newly recognised variant of biotinidase deficiency presented with acute loss of vision at the age of 10 years. Progressive bilateral optic neuropathy, spastic paraparesis, and a predominantly motor type neuropathy developed over the next five years. Metabolic investigations revealed biotin depletion causing multiple carboxylase deficiency. The basic defect was a biotin recyclin...
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The identification of gene mutations causing infertility in humans remains noticeably deficient at present. Although most males and females with infertility display normal pubertal development, nearly all of the gene mutations in humans have been characterised in people with deficient puberty and subsequent infertility. Gene mutations are arbitrarily categorised into four different compartments...
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Transmission of signals from nerves to muscles is critical for life, so substantial safety factor mechanisms have evolved to ensure its success. Despite this, diseases can impair even this robust system. Characterizing these disease mechanisms greatly contributes to understanding this fundamental process. Neuromuscular transmission serves as a model for helping to understand neurotransmission t...
متن کاملBiotinidase deficiency.
A three month old baby presented with refractory seizures, dermatosis and persistent metabolic acidosis. Biotinidase deficiency was diagnosed on enzyme assay. Patient responded dramatically to biotin supplementation.
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2010
ISSN: 1059-7794
DOI: 10.1002/humu.21303